Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormal pelvic girdle bone morphology (HP:0002644)

Parent Node:
Abnormal hip bone morphology (HP:0003272)

..Starting node
..Hip dysplasia (HP:0001385)

Term ID:

1385

Name:

Hip dysplasia

Synonym:

Abnormal formation of the hip; Congenital hip dysplasia

Definition:

The presence of developmental dysplasia of the hip.

Comments:

Reference:

HP:0001385

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal hip joint morphology (HP:0001384)

Abnormal ilium morphology (HP:0002867)

Abnormality of the ischium (HP:0003174)

Abnormality of the pubic bone (HP:0003172)

Arthralgia of the hip (HP:0003365)

Coxa magna (HP:0003279)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001385	HP:0001385	Hip dysplasia	0	ADAMTS2 CL E G H	9509	218	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome	HP:0040281 - Very frequent	165
HP:0001385	HP:0001385	Hip dysplasia	0	ADAMTSL2 CL E G H	9719	14631	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome	HP:0040281 - Very frequent	72
HP:0001385	HP:0001385	Hip dysplasia	0	ANKRD11 CL E G H	29123	21316	ORPHA:261250	16q24.3 microdeletion syndrome	HP:0040283 - Occasional	102
HP:0001385	HP:0001385	Hip dysplasia	0	ARSB CL E G H	411	714	OMIM:253200	Mucopolysaccharidosis, type VI	.	120
HP:0001385	HP:0001385	Hip dysplasia	0	ARSK CL E G H	153642	25239	OMIM:619698	MUCOPOLYSACCHARIDOSIS, TYPE X; MPS10
HP:0001385	HP:0001385	Hip dysplasia	0	ATAD3A CL E G H	55210	25567	OMIM:617183	Harel-Yoon syndrome	.	5
HP:0001385	HP:0001385	Hip dysplasia	0	ATAD3A CL E G H	55210	25567	ORPHA:496790	Ocular anomalies-axonal neuropathy-developmental delay syndrome	HP:0040283 - Occasional	5
HP:0001385	HP:0001385	Hip dysplasia	0	ATN1 CL E G H	1822	3033	OMIM:618494	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies	.	16
HP:0001385	HP:0001385	Hip dysplasia	0	ATP1A3 CL E G H	478	801	OMIM:619606	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 99; DEE99		150
HP:0001385	HP:0001385	Hip dysplasia	0	ATP6V1A CL E G H	523	851	OMIM:617403	Cutis laxa, autosomal recessive, type IID		3
HP:0001385	HP:0001385	Hip dysplasia	0	ATP6V1E1 CL E G H	529	857	OMIM:617402	Cutis laxa, autosomal recessive, type IIC	.	2
HP:0001385	HP:0001385	Hip dysplasia	0	ATP7A CL E G H	538	869	ORPHA:198	Occipital horn syndrome	HP:0040283 - Occasional	192
HP:0001385	HP:0001385	Hip dysplasia	0	ATR CL E G H	545	882	ORPHA:808	Seckel syndrome	HP:0040282 - Frequent	168
HP:0001385	HP:0001385	Hip dysplasia	0	ATRIP CL E G H	84126	33499	ORPHA:808	Seckel syndrome	HP:0040282 - Frequent	1
HP:0001385	HP:0001385	Hip dysplasia	0	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome	HP:0040282 - Frequent	38
HP:0001385	HP:0001385	Hip dysplasia	0	B3GALT6 CL E G H	126792	17978	ORPHA:93359	Spondyloepimetaphyseal dysplasia with joint laxity	HP:0040282 - Frequent	38
HP:0001385	HP:0001385	Hip dysplasia	0	BAP1 CL E G H	8314	950	OMIM:619762	KURY-ISIDOR SYNDROME; KURIS		184
HP:0001385	HP:0001385	Hip dysplasia	0	BICD2 CL E G H	23299	17208	ORPHA:363454	BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy	HP:0040283 - Occasional	46
HP:0001385	HP:0001385	Hip dysplasia	0	BICD2 CL E G H	23299	17208	OMIM:615290	Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant	HP:0040283 - Occasional	46
HP:0001385	HP:0001385	Hip dysplasia	0	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional
HP:0001385	HP:0001385	Hip dysplasia	0	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	3
HP:0001385	HP:0001385	Hip dysplasia	0	CCDC47 CL E G H	57003	24856	OMIM:618268	Trichohepatoneurodevelopmental syndrome	.
HP:0001385	HP:0001385	Hip dysplasia	0	CCDC8 CL E G H	83987	25367	OMIM:614205	THREE M SYNDROME 3; 3M3		5
HP:0001385	HP:0001385	Hip dysplasia	0	CENPE CL E G H	1062	1856	ORPHA:808	Seckel syndrome	HP:0040282 - Frequent	20
HP:0001385	HP:0001385	Hip dysplasia	0	CENPJ CL E G H	55835	17272	ORPHA:808	Seckel syndrome	HP:0040282 - Frequent	161
HP:0001385	HP:0001385	Hip dysplasia	0	CEP152 CL E G H	22995	29298	ORPHA:808	Seckel syndrome	HP:0040282 - Frequent	146
HP:0001385	HP:0001385	Hip dysplasia	0	CNOT3 CL E G H	4849	7879	OMIM:618672	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES; IDDSADF
HP:0001385	HP:0001385	Hip dysplasia	0	COG6 CL E G H	57511	18621	OMIM:614576	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L		71
HP:0001385	HP:0001385	Hip dysplasia	0	COL10A1 CL E G H	1300	2185	ORPHA:174	Metaphyseal chondrodysplasia, Schmid type	HP:0040282 - Frequent	79
HP:0001385	HP:0001385	Hip dysplasia	0	COL1A1 CL E G H	1277	2197	ORPHA:1899	Arthrochalasia Ehlers-Danlos syndrome	HP:0040281 - Very frequent	373
HP:0001385	HP:0001385	Hip dysplasia	0	COL1A2 CL E G H	1278	2198	ORPHA:1899	Arthrochalasia Ehlers-Danlos syndrome	HP:0040281 - Very frequent	243
HP:0001385	HP:0001385	Hip dysplasia	0	COL2A1 CL E G H	1280	2200	ORPHA:166011	Multiple epiphyseal dysplasia, Beighton type	HP:0040282 - Frequent	284
HP:0001385	HP:0001385	Hip dysplasia	0	COL2A1 CL E G H	1280	2200	ORPHA:93316	Spondylometaphyseal dysplasia, Schmidt type	HP:0040282 - Frequent	284
HP:0001385	HP:0001385	Hip dysplasia	0	COL2A1 CL E G H	1280	2200	ORPHA:1856	Spondyloperipheral dysplasia-short ulna syndrome	HP:0040283 - Occasional	284
HP:0001385	HP:0001385	Hip dysplasia	0	COL9A2 CL E G H	1298	2218	OMIM:600204	Epiphyseal dysplasia, multiple, 2		110
HP:0001385	HP:0001385	Hip dysplasia	0	COMP CL E G H	1311	2227	ORPHA:93308	Multiple epiphyseal dysplasia type 1	HP:0040282 - Frequent	89
HP:0001385	HP:0001385	Hip dysplasia	0	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome		1
HP:0001385	HP:0001385	Hip dysplasia	0	CREBBP CL E G H	1387	2348	OMIM:618332	MENKE-HENNEKAM SYNDROME 1; MKHK1		291
HP:0001385	HP:0001385	Hip dysplasia	0	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations	HP:0040283 - Occasional	291
HP:0001385	HP:0001385	Hip dysplasia	0	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0001385	HP:0001385	Hip dysplasia	0	DDB1 CL E G H	1642	2717	OMIM:619426	WHITE-KERNOHAN SYNDROME; WHIKERS
HP:0001385	HP:0001385	Hip dysplasia	0	DPYSL5 CL E G H	56896	20637	OMIM:619435	RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0001385	HP:0001385	Hip dysplasia	0	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional	14
HP:0001385	HP:0001385	Hip dysplasia	0	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional	5
HP:0001385	HP:0001385	Hip dysplasia	0	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	HP:0040283 - Occasional	250
HP:0001385	HP:0001385	Hip dysplasia	0	EXOC6B CL E G H	23233	17085	ORPHA:93359	Spondyloepimetaphyseal dysplasia with joint laxity	HP:0040282 - Frequent	3
HP:0001385	HP:0001385	Hip dysplasia	0	EXT1 CL E G H	2131	3512	ORPHA:502	Trichorhinophalangeal syndrome type 2	HP:0040283 - Occasional	96
HP:0001385	HP:0001385	Hip dysplasia	0	FARS2 CL E G H	10667	21062	ORPHA:466722	Autosomal recessive spastic paraplegia type 77	HP:0040283 - Occasional	36
HP:0001385	HP:0001385	Hip dysplasia	0	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0001385	HP:0001385	Hip dysplasia	0	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional
HP:0001385	HP:0001385	Hip dysplasia	0	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	10
HP:0001385	HP:0001385	Hip dysplasia	0	GDF5 CL E G H	8200	4220	ORPHA:63442	Angel-shaped phalango-epiphyseal dysplasia	HP:0040282 - Frequent	52
HP:0001385	HP:0001385	Hip dysplasia	0	GLE1 CL E G H	2733	4315	OMIM:611890	Congenital arthrogryposis with anterior horn cell disease	.	45
HP:0001385	HP:0001385	Hip dysplasia	0	GLI3 CL E G H	2737	4319	ORPHA:93322	Tibial hemimelia	HP:0040283 - Occasional	270
HP:0001385	HP:0001385	Hip dysplasia	0	GMNN CL E G H	51053	17493	OMIM:616835	Meier-Gorlin syndrome 6		3
HP:0001385	HP:0001385	Hip dysplasia	0	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta		240
HP:0001385	HP:0001385	Hip dysplasia	0	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID		69
HP:0001385	HP:0001385	Hip dysplasia	0	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional	37
HP:0001385	HP:0001385	Hip dysplasia	0	HEATR3 CL E G H	55027	26087	OMIM:620072
HP:0001385	HP:0001385	Hip dysplasia	0	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome		38
HP:0001385	HP:0001385	Hip dysplasia	0	HIVEP2 CL E G H	3097	4921	OMIM:616977	Mental retardation, autosomal dominant 43		13
HP:0001385	HP:0001385	Hip dysplasia	0	HNRNPK CL E G H	3190	5044	OMIM:616580	Au-Kline syndrome	.	8
HP:0001385	HP:0001385	Hip dysplasia	0	HNRNPK CL E G H	3190	5044	ORPHA:352665	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion	HP:0040282 - Frequent	8
HP:0001385	HP:0001385	Hip dysplasia	0	HNRNPK CL E G H	3190	5044	ORPHA:453504	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation	HP:0040282 - Frequent	8
HP:0001385	HP:0001385	Hip dysplasia	0	HNRNPR CL E G H	10236	5047	OMIM:620073
HP:0001385	HP:0001385	Hip dysplasia	0	HOXA11 CL E G H	3207	5101	ORPHA:71289	Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome	HP:0040283 - Occasional	3
HP:0001385	HP:0001385	Hip dysplasia	0	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	345
HP:0001385	HP:0001385	Hip dysplasia	0	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome	HP:0040281 - Very frequent	345
HP:0001385	HP:0001385	Hip dysplasia	0	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form	HP:0040283 - Occasional	86
HP:0001385	HP:0001385	Hip dysplasia	0	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form	HP:0040283 - Occasional	86
HP:0001385	HP:0001385	Hip dysplasia	0	INPP5K CL E G H	51763	33882	ORPHA:559	Marinesco-Sjögren syndrome	HP:0040282 - Frequent	7
HP:0001385	HP:0001385	Hip dysplasia	0	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0001385	HP:0001385	Hip dysplasia	0	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome
HP:0001385	HP:0001385	Hip dysplasia	0	IRX5 CL E G H	10265	14361	OMIM:611174	Hamamy syndrome	.	4
HP:0001385	HP:0001385	Hip dysplasia	0	KANSL1 CL E G H	284058	24565	OMIM:610443	Koolen-De Vries syndrome		283
HP:0001385	HP:0001385	Hip dysplasia	0	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	1
HP:0001385	HP:0001385	Hip dysplasia	0	KCNK4 CL E G H	50801	6279	OMIM:618381	Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome	HP:0040284 - Very rare
HP:0001385	HP:0001385	Hip dysplasia	0	KDM3B CL E G H	51780	1337	OMIM:618846	DIETS-JONGMANS SYNDROME; DIJOS
HP:0001385	HP:0001385	Hip dysplasia	0	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1		53
HP:0001385	HP:0001385	Hip dysplasia	0	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1		660
HP:0001385	HP:0001385	Hip dysplasia	0	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0001385	HP:0001385	Hip dysplasia	0	LGI3 CL E G H	203190	18711	OMIM:620007
HP:0001385	HP:0001385	Hip dysplasia	0	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome	HP:0040283 - Occasional	645
HP:0001385	HP:0001385	Hip dysplasia	0	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0001385	HP:0001385	Hip dysplasia	0	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome	HP:0040283 - Occasional	63
HP:0001385	HP:0001385	Hip dysplasia	0	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome		63
HP:0001385	HP:0001385	Hip dysplasia	0	MAGEL2 CL E G H	54551	6814	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040283 - Occasional	63
HP:0001385	HP:0001385	Hip dysplasia	0	MAGEL2 CL E G H	54551	6814	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040283 - Occasional	63
HP:0001385	HP:0001385	Hip dysplasia	0	MAGEL2 CL E G H	54551	6814	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040283 - Occasional	63
HP:0001385	HP:0001385	Hip dysplasia	0	MATN3 CL E G H	4148	6909	ORPHA:93311	Multiple epiphyseal dysplasia type 5	HP:0040281 - Very frequent	32
HP:0001385	HP:0001385	Hip dysplasia	0	MBD5 CL E G H	55777	20444	ORPHA:228402	2q23.1 microdeletion syndrome	HP:0040283 - Occasional	252
HP:0001385	HP:0001385	Hip dysplasia	0	MBD5 CL E G H	55777	20444	OMIM:156200	Mental retardation, autosomal dominant 1		252
HP:0001385	HP:0001385	Hip dysplasia	0	MECOM CL E G H	2122	3498	ORPHA:71289	Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome	HP:0040283 - Occasional	4
HP:0001385	HP:0001385	Hip dysplasia	0	MED12 CL E G H	9968	11957	OMIM:300895	Ohdo syndrome, X-linked		228
HP:0001385	HP:0001385	Hip dysplasia	0	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome		5
HP:0001385	HP:0001385	Hip dysplasia	0	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome
HP:0001385	HP:0001385	Hip dysplasia	0	MMP13 CL E G H	4322	7159	ORPHA:2501	Metaphyseal chondrodysplasia, Spahr type	HP:0040281 - Very frequent	52
HP:0001385	HP:0001385	Hip dysplasia	0	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0001385	HP:0001385	Hip dysplasia	0	MRPS25 CL E G H	64432	14511	OMIM:619025	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 50; COXPD50
HP:0001385	HP:0001385	Hip dysplasia	0	MYH7 CL E G H	4625	7577	ORPHA:324604	Classic multiminicore myopathy	HP:0040283 - Occasional	1269
HP:0001385	HP:0001385	Hip dysplasia	0	NDN CL E G H	4692	7675	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040283 - Occasional
HP:0001385	HP:0001385	Hip dysplasia	0	NDN CL E G H	4692	7675	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040283 - Occasional
HP:0001385	HP:0001385	Hip dysplasia	0	NDN CL E G H	4692	7675	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040283 - Occasional
HP:0001385	HP:0001385	Hip dysplasia	0	NFIX CL E G H	4784	7788	ORPHA:447980	19p13.3 microduplication syndrome	HP:0040283 - Occasional	40
HP:0001385	HP:0001385	Hip dysplasia	0	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome		40
HP:0001385	HP:0001385	Hip dysplasia	0	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome	HP:0040283 - Occasional	32
HP:0001385	HP:0001385	Hip dysplasia	0	NIN CL E G H	51199	14906	ORPHA:319675	Microcephalic primordial dwarfism, Dauber type	HP:0040282 - Frequent	55
HP:0001385	HP:0001385	Hip dysplasia	0	NIN CL E G H	51199	14906	OMIM:614851	Seckel syndrome 7	.	55
HP:0001385	HP:0001385	Hip dysplasia	0	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional	494
HP:0001385	HP:0001385	Hip dysplasia	0	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome		1
HP:0001385	HP:0001385	Hip dysplasia	0	NRCAM CL E G H	4897	7994	OMIM:619833			2
HP:0001385	HP:0001385	Hip dysplasia	0	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome		118
HP:0001385	HP:0001385	Hip dysplasia	0	NUP85 CL E G H	79902	8734	ORPHA:808	Seckel syndrome	HP:0040282 - Frequent
HP:0001385	HP:0001385	Hip dysplasia	0	OCA2 CL E G H	4948	8101	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040283 - Occasional	121
HP:0001385	HP:0001385	Hip dysplasia	0	OCA2 CL E G H	4948	8101	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040283 - Occasional	121
HP:0001385	HP:0001385	Hip dysplasia	0	OCA2 CL E G H	4948	8101	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040283 - Occasional	121
HP:0001385	HP:0001385	Hip dysplasia	0	OGDHL CL E G H	55753	25590	OMIM:619701	YOON-BELLEN NEURODEVELOPMENTAL SYNDROME; YOBELN		3
HP:0001385	HP:0001385	Hip dysplasia	0	PCNT CL E G H	5116	16068	ORPHA:808	Seckel syndrome	HP:0040282 - Frequent	531
HP:0001385	HP:0001385	Hip dysplasia	0	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0001385	HP:0001385	Hip dysplasia	0	PGAP2 CL E G H	27315	17893	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	8
HP:0001385	HP:0001385	Hip dysplasia	0	PGAP3 CL E G H	93210	23719	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	20
HP:0001385	HP:0001385	Hip dysplasia	0	PIEZO2 CL E G H	63895	26270	OMIM:617146	Arthrogryposis, distal, with impaired proprioception and touch	.	77
HP:0001385	HP:0001385	Hip dysplasia	0	PIGL CL E G H	9487	8966	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	36
HP:0001385	HP:0001385	Hip dysplasia	0	PIGO CL E G H	84720	23215	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	84
HP:0001385	HP:0001385	Hip dysplasia	0	PIGV CL E G H	55650	26031	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	57
HP:0001385	HP:0001385	Hip dysplasia	0	PIGW CL E G H	284098	23213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	6
HP:0001385	HP:0001385	Hip dysplasia	0	PIGY CL E G H	84992	28213	OMIM:616809	Hyperphosphatasia with mental retardation syndrome 6		2
HP:0001385	HP:0001385	Hip dysplasia	0	PIGY CL E G H	84992	28213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	2
HP:0001385	HP:0001385	Hip dysplasia	0	PLK4 CL E G H	10733	11397	ORPHA:808	Seckel syndrome	HP:0040282 - Frequent	11
HP:0001385	HP:0001385	Hip dysplasia	0	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040282 - Frequent	138
HP:0001385	HP:0001385	Hip dysplasia	0	PPP2R1A CL E G H	5518	9302	OMIM:616362	Mental retardation, autosomal dominant 36		13
HP:0001385	HP:0001385	Hip dysplasia	0	PPP2R1A CL E G H	5518	9302	ORPHA:457284	Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome	HP:0040283 - Occasional	13
HP:0001385	HP:0001385	Hip dysplasia	0	PPP2R3C CL E G H	55012	17485	OMIM:618419	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy	HP:0040284 - Very rare
HP:0001385	HP:0001385	Hip dysplasia	0	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	148
HP:0001385	HP:0001385	Hip dysplasia	0	PRDM5 CL E G H	11107	9349	ORPHA:90354	Brittle cornea syndrome	HP:0040283 - Occasional	58
HP:0001385	HP:0001385	Hip dysplasia	0	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0001385	HP:0001385	Hip dysplasia	0	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0001385	HP:0001385	Hip dysplasia	0	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome	HP:0040283 - Occasional	19
HP:0001385	HP:0001385	Hip dysplasia	0	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome
HP:0001385	HP:0001385	Hip dysplasia	0	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome
HP:0001385	HP:0001385	Hip dysplasia	0	RAB11B CL E G H	9230	9761	OMIM:617807	Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter	.
HP:0001385	HP:0001385	Hip dysplasia	0	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional	25
HP:0001385	HP:0001385	Hip dysplasia	0	RBBP8 CL E G H	5932	9891	ORPHA:808	Seckel syndrome	HP:0040282 - Frequent	68
HP:0001385	HP:0001385	Hip dysplasia	0	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	16
HP:0001385	HP:0001385	Hip dysplasia	0	RERE CL E G H	473	9965	OMIM:616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart		16
HP:0001385	HP:0001385	Hip dysplasia	0	RERE CL E G H	473	9965	ORPHA:494344	RERE-related neurodevelopmental syndrome	HP:0040283 - Occasional	16
HP:0001385	HP:0001385	Hip dysplasia	0	RNF13 CL E G H	11342	10057	OMIM:618379	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 73; DEE73
HP:0001385	HP:0001385	Hip dysplasia	0	RNF13 CL E G H	11342	10057	ORPHA:544503	RNF13-related severe early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0001385	HP:0001385	Hip dysplasia	0	SELENON CL E G H	57190	15999	ORPHA:324604	Classic multiminicore myopathy	HP:0040283 - Occasional	144
HP:0001385	HP:0001385	Hip dysplasia	0	SETBP1 CL E G H	26040	15573	OMIM:616078	Mental retardation, autosomal dominant 29		143
HP:0001385	HP:0001385	Hip dysplasia	0	SH3PXD2B CL E G H	285590	29242	OMIM:249420	Frank-ter Haar syndrome	.	134
HP:0001385	HP:0001385	Hip dysplasia	0	SH3TC2 CL E G H	79628	29427	ORPHA:99949	Charcot-Marie-Tooth disease type 4C	HP:0040283 - Occasional	493
HP:0001385	HP:0001385	Hip dysplasia	0	SHPK CL E G H	23729	1492	ORPHA:440713	Isolated sedoheptulokinase deficiency	HP:0040282 - Frequent	2
HP:0001385	HP:0001385	Hip dysplasia	0	SIL1 CL E G H	64374	24624	ORPHA:559	Marinesco-Sjögren syndrome	HP:0040282 - Frequent	67
HP:0001385	HP:0001385	Hip dysplasia	0	SIM1 CL E G H	6492	10882	ORPHA:398079	SIM1-related Prader-Willi-like syndrome	HP:0040283 - Occasional	40
HP:0001385	HP:0001385	Hip dysplasia	0	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	150
HP:0001385	HP:0001385	Hip dysplasia	0	SLC26A2 CL E G H	1836	10994	ORPHA:628	Diastrophic dysplasia	HP:0040282 - Frequent	166
HP:0001385	HP:0001385	Hip dysplasia	0	SLC26A2 CL E G H	1836	10994	OMIM:226900	Epiphyseal dysplasia, multiple, 4	.	166
HP:0001385	HP:0001385	Hip dysplasia	0	SLC26A2 CL E G H	1836	10994	ORPHA:93307	Multiple epiphyseal dysplasia type 4	HP:0040283 - Occasional	166
HP:0001385	HP:0001385	Hip dysplasia	0	SLC2A10 CL E G H	81031	13444	ORPHA:3342	Arterial tortuosity syndrome	HP:0040283 - Occasional	178
HP:0001385	HP:0001385	Hip dysplasia	0	SLC35A3 CL E G H	23443	11023	ORPHA:370943	Autism spectrum disorder-epilepsy-arthrogryposis syndrome	HP:0040283 - Occasional	2
HP:0001385	HP:0001385	Hip dysplasia	0	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS		146
HP:0001385	HP:0001385	Hip dysplasia	0	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional	135
HP:0001385	HP:0001385	Hip dysplasia	0	SMC1A CL E G H	8243	11111	OMIM:301044	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85		135
HP:0001385	HP:0001385	Hip dysplasia	0	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional	91
HP:0001385	HP:0001385	Hip dysplasia	0	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome
HP:0001385	HP:0001385	Hip dysplasia	0	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome
HP:0001385	HP:0001385	Hip dysplasia	0	SNRPN CL E G H	6638	11164	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040283 - Occasional	37
HP:0001385	HP:0001385	Hip dysplasia	0	SNRPN CL E G H	6638	11164	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040283 - Occasional	37
HP:0001385	HP:0001385	Hip dysplasia	0	SNRPN CL E G H	6638	11164	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040283 - Occasional	37
HP:0001385	HP:0001385	Hip dysplasia	0	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	4
HP:0001385	HP:0001385	Hip dysplasia	0	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome		138
HP:0001385	HP:0001385	Hip dysplasia	0	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome	HP:0040283 - Occasional	138
HP:0001385	HP:0001385	Hip dysplasia	0	TAF1 CL E G H	6872	11535	OMIM:300966	MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33		21
HP:0001385	HP:0001385	Hip dysplasia	0	TBX4 CL E G H	9496	11603	ORPHA:1509	Coxopodopatellar syndrome	HP:0040282 - Frequent	55
HP:0001385	HP:0001385	Hip dysplasia	0	TBX4 CL E G H	9496	11603	ORPHA:238578	Familial clubfoot due to 17q23.1q23.2 microduplication	HP:0040283 - Occasional	55
HP:0001385	HP:0001385	Hip dysplasia	0	TET3 CL E G H	200424	28313	OMIM:618798	BECK-FAHRNER SYNDROME; BEFAHRS
HP:0001385	HP:0001385	Hip dysplasia	0	TFE3 CL E G H	7030	11752	OMIM:301066	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0001385	HP:0001385	Hip dysplasia	0	THOC2 CL E G H	57187	19073	ORPHA:457240	X-linked intellectual disability-short stature-overweight syndrome	HP:0040283 - Occasional	5
HP:0001385	HP:0001385	Hip dysplasia	0	TRAIP CL E G H	10293	30764	ORPHA:808	Seckel syndrome	HP:0040282 - Frequent	2
HP:0001385	HP:0001385	Hip dysplasia	0	TRAPPC11 CL E G H	60684	25751	OMIM:615356	Muscular dystrophy, limb-girdle, autosomal recessive 18	.	27
HP:0001385	HP:0001385	Hip dysplasia	0	TRPS1 CL E G H	7227	12340	ORPHA:502	Trichorhinophalangeal syndrome type 2	HP:0040283 - Occasional	171
HP:0001385	HP:0001385	Hip dysplasia	0	TRPV4 CL E G H	59341	18083	OMIM:181405	Scapuloperoneal spinal muscular atrophy	.	214
HP:0001385	HP:0001385	Hip dysplasia	0	TTN CL E G H	7273	12403	ORPHA:324604	Classic multiminicore myopathy	HP:0040283 - Occasional	7128
HP:0001385	HP:0001385	Hip dysplasia	0	UBA2 CL E G H	10054	30661	OMIM:619959
HP:0001385	HP:0001385	Hip dysplasia	0	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0001385	HP:0001385	Hip dysplasia	0	UFSP2 CL E G H	55325	25640	OMIM:142669	Hip dysplasia, Beukes type	.	2
HP:0001385	HP:0001385	Hip dysplasia	0	UFSP2 CL E G H	55325	25640	ORPHA:2114	Hip dysplasia, Beukes type	HP:0040281 - Very frequent	2
HP:0001385	HP:0001385	Hip dysplasia	0	UMPS CL E G H	7372	12563	ORPHA:30	Hereditary orotic aciduria	HP:0040282 - Frequent	135
HP:0001385	HP:0001385	Hip dysplasia	0	UNC45A CL E G H	55898	30594	OMIM:619377	OSTEOOTOHEPATOENTERIC SYNDROME; OOHE
HP:0001385	HP:0001385	Hip dysplasia	0	USP7 CL E G H	7874	12630	ORPHA:500055	16p13.2 microdeletion syndrome	HP:0040283 - Occasional	2
HP:0001385	HP:0001385	Hip dysplasia	0	USP9X CL E G H	8239	12632	OMIM:300968	Mental retardation, X-linked 99, syndromic, female-restricted		27
HP:0001385	HP:0001385	Hip dysplasia	0	USP9X CL E G H	8239	12632	ORPHA:480880	X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability	HP:0040283 - Occasional	27
HP:0001385	HP:0001385	Hip dysplasia	0	VIPAS39 CL E G H	63894	20347	OMIM:613404	Arthrogryposis, renal dysfunction, and cholestasis 2	.	27
HP:0001385	HP:0001385	Hip dysplasia	0	VPS33B CL E G H	26276	12712	OMIM:208085	Arthrogryposis, renal dysfunction, and cholestasis 1	.	63
HP:0001385	HP:0001385	Hip dysplasia	0	WDR19 CL E G H	57728	18340	OMIM:614378	Cranioectodermal dysplasia 4	.	95
HP:0001385	HP:0001385	Hip dysplasia	0	WDR26 CL E G H	80232	21208	ORPHA:513456	Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome	HP:0040283 - Occasional	8
HP:0001385	HP:0001385	Hip dysplasia	0	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional	98
HP:0001385	HP:0001385	Hip dysplasia	0	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome		17
HP:0001385	HP:0001385	Hip dysplasia	0	ZNF469 CL E G H	84627	23216	ORPHA:90354	Brittle cornea syndrome	HP:0040283 - Occasional	397

Genes (165) :ADAMTS2 ADAMTSL2 ANKRD11 ARSB ARSK ATAD3A ATN1 ATP1A3 ATP6V1A ATP6V1E1 ATP7A ATR ATRIP B3GALT6 BAP1 BICD2 BRD4 CASZ1 CCDC47 CCDC8 CENPE CENPJ CEP152 CNOT3 COG6 COL10A1 COL1A1 COL1A2 COL2A1 COL9A2 COMP CPLX1 CREBBP CTBP1 DDB1 DPYSL5 DVL1 DVL3 EP300 EXOC6B EXT1 FARS2 FGFRL1 FZD2 GABRD GDF5 GLE1 GLI3 GMNN GNPTAB GNS HDAC8 HEATR3 HERC2 HIVEP2 HNRNPK HNRNPR HOXA11 HSPG2 IDS INPP5K IPO8 IPW IRX5 KANSL1 KCNAB2 KCNK4 KDM3B KDM6A KMT2D LETM1 LGI3 LMNA LUZP1 MAGEL2 MATN3 MBD5 MECOM MED12 MKRN3 MKRN3-AS1 MMP13 MMP23B MRPS25 MYH7 NDN NFIX NGLY1 NIN NIPBL NPAP1 NRCAM NSD2 NUP85 OCA2 OGDHL PCNT PDPN PGAP2 PGAP3 PIEZO2 PIGL PIGO PIGV PIGW PIGY PLK4 POLR3A PPP2R1A PPP2R3C PRDM16 PRDM5 PRIM1 PRKCZ PUF60 PWAR1 PWRN1 RAB11B RAD21 RBBP8 RERE RNF13 SELENON SETBP1 SH3PXD2B SH3TC2 SHPK SIL1 SIM1 SKI SLC26A2 SLC2A10 SLC35A3 SMARCA2 SMC1A SMC3 SNORD115-1 SNORD116-1 SNRPN SPEN SRCAP TAF1 TBX4 TET3 TFE3 THOC2 TRAIP TRAPPC11 TRPS1 TRPV4 TTN UBA2 UBE4B UFSP2 UMPS UNC45A USP7 USP9X VIPAS39 VPS33B WDR19 WDR26 WNT5A ZBTB20 ZNF469

Diseases (133) :ORPHA:1901 ORPHA:261250 OMIM:253200 OMIM:619698 OMIM:617183 ORPHA:496790 OMIM:618494 OMIM:619606 OMIM:617403 OMIM:617402 ORPHA:198 ORPHA:808 ORPHA:536467 ORPHA:93359 OMIM:619762 ORPHA:363454 OMIM:615290 ORPHA:199 ORPHA:1606 OMIM:618268 OMIM:614205 OMIM:618672 OMIM:614576 ORPHA:174 ORPHA:1899 ORPHA:166011 ORPHA:93316 ORPHA:1856 OMIM:600204 ORPHA:93308 OMIM:194190 OMIM:618332 ORPHA:353277 OMIM:619426 OMIM:619435 ORPHA:3107 ORPHA:353284 ORPHA:502 ORPHA:466722 ORPHA:63442 OMIM:611890 ORPHA:93322 OMIM:616835 OMIM:252500 OMIM:252940 OMIM:620072 OMIM:176270 OMIM:616977 OMIM:616580 ORPHA:352665 ORPHA:453504 OMIM:620073 ORPHA:71289 ORPHA:800 ORPHA:217093 ORPHA:217085 ORPHA:559 OMIM:619472 OMIM:611174 OMIM:610443 OMIM:618381 OMIM:618846 OMIM:147920 OMIM:620007 ORPHA:79474 ORPHA:398069 ORPHA:98754 ORPHA:177901 ORPHA:177904 ORPHA:93311 ORPHA:228402 OMIM:156200 OMIM:300895 ORPHA:2501 OMIM:619025 ORPHA:324604 ORPHA:447980 OMIM:602535 ORPHA:404454 ORPHA:319675 OMIM:614851 OMIM:619833 OMIM:619701 ORPHA:247262 OMIM:617146 OMIM:616809 ORPHA:3455 OMIM:616362 ORPHA:457284 OMIM:618419 ORPHA:90354 OMIM:620005 ORPHA:508488 OMIM:617807 OMIM:616975 ORPHA:494344 OMIM:618379 ORPHA:544503 OMIM:616078 OMIM:249420 ORPHA:99949 ORPHA:440713 ORPHA:398079 ORPHA:628 OMIM:226900 ORPHA:93307 ORPHA:3342 ORPHA:370943 OMIM:619293 OMIM:301044 OMIM:136140 ORPHA:2044 OMIM:300966 ORPHA:1509 ORPHA:238578 OMIM:618798 OMIM:301066 ORPHA:457240 OMIM:615356 OMIM:181405 OMIM:619959 OMIM:142669 ORPHA:2114 ORPHA:30 OMIM:619377 ORPHA:500055 OMIM:300968 ORPHA:480880 OMIM:613404 OMIM:208085 OMIM:614378 ORPHA:513456 OMIM:259050

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

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